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    Mutations Activity

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    Joe Byntine
    The document discusses various types of gene mutations: insertions, deletions, and substitutions. Insertions and deletions can cause frameshift mutations if they are not multiples of three bases. Substitutions can be missense, silent, or nonsense depending on if they change the amino acid, do not change it, or create a stop codon. Examples using a DNA and corresponding amino acid sequence are provided to illustrate the different mutation types. Potential effects of mutations in non-coding regions like promoters and splice junctions are also outlined.

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    Mutations Activity

    Uploaded by

    Joe Byntine
    184 views4 pages
    The document discusses various types of gene mutations: insertions, deletions, and substitutions. Insertions and deletions can cause frameshift mutations if they are not multiples of three bases. Substitutions can be missense, silent, or nonsense depending on if they change the amino acid, do not change it, or create a stop codon. Examples using a DNA and corresponding amino acid sequence are provided to illustrate the different mutation types. Potential effects of mutations in non-coding regions like promoters and splice junctions are also outlined.

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    DNA Mutations Activity Worksheet

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    The document discusses various types of gene mutations: insertions, deletions, and substitutions. Insertions and deletions can cause frameshift mutations if they are not multiples of three bases. Substitutions can be missense, silent, or nonsense depending on if they change the amino acid, do not change it, or create a stop codon. Examples using a DNA and corresponding amino acid sequence are provided to illustrate the different mutation types. Potential effects of mutations in non-coding regions like promoters and splice junctions are also outlined.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    184 views4 pages

    Mutations Activity

    Uploaded by

    Joe Byntine
    The document discusses various types of gene mutations: insertions, deletions, and substitutions. Insertions and deletions can cause frameshift mutations if they are not multiples of three bases. Substitutions can be missense, silent, or nonsense depending on if they change the amino acid, do not change it, or create a stop codon. Examples using a DNA and corresponding amino acid sequence are provided to illustrate the different mutation types. Potential effects of mutations in non-coding regions like promoters and splice junctions are also outlined.

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    © All Rights Reserved
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    Download as pdf or txt
    of 4

    MUTATIONS WORKBOOK

    There are several types of gene mutations:


    1. INSERTION: extra base(s) is/are inserted in the sequence
    2. DELETION: base(s) is/are lost from the sequence
    If the deletion or insertion is not a multiple of three bases the a FRAMESHIFT results, this is when the
    ‘reading frame’ of the sequence changes, resulting in a change of sequence of all the encoded amino
    acids after the mutation.
    3. SUBSTITUTION: one base is changed for another
    If a substitution changes the amino acid, it’s called a MISSENSE mutation
    If a substitution does not change the amino acid, it’s called a SILENT mutation
    If a substitution changes the amino acid to a stop codon, it’s called a NONSENSE mutation

    As you are aware the DNA code is read in three letter ‘words’ known as codons, let’s take an English sentence
    made up of three letter words to demonstrate.

    Original Sentence THE FAT CAT SAT AND ATE THE RED RAT
    If we delete a single letter (for example the first S) and regroup the letters in groups of three the sentence now
    doesn’t make sense, the single letter deletion has changed the reading frame.

    Deletion (1 letter; S) THE FAT CAT ATA NDA TET HER EDR AT
    Similarly, an insertion would have the same effect of changing the reading frame

    Insertion (1 letter; extra S) THE FAT CAT SSA TAN DAT ETH ERE DRA T
    However the effect of a 3 letter deletion or insertion has a different effect, the sentence is still somewhat
    readable even if it overlaps 2 words.

    Deletion (3 letters; SAT) THE FAT CAT AND ATE THE RED RAT
    Deletion (3 letters; ATA) THE FAT CAT SND ATE THE RED RAT
    Substitutions change one letter for another, changing the word. When this occurs in DNA the encoded amino
    acid is changed and is referred to as MISSENSE. For example:

    Substitution (SM) THE FAT CAT MAT AND ATE THE RED RAT
    Because the DNA code is degenerate (more than one codon encodes an amino acid) a change in one letter
    doesn’t always result in a change in the encoded amino acid. When this occurs it is referred to as a SILENT
    mutation. This will be become clearer when you look at DNA.

    Substitution (CK) THE FAT KAT SAT AND ATE THE RED RAT
    Substitution mutations in DNA can also insert a Stop codon which signals the end of translation and thus the
    amino acid chain. The same way that a full-stop signals the end of a sentence. When this occurs it is referred to
    as NONSENSE mutation.

    Substitution (S .) THE FAT CAT .

    1
    EXERCISE:
    DIRECTIONS: Using the principles that you have just learnt and apply them to DNA sequences below.
    Firstly you will need to transcribe the template DNA sequence into its complementary mRNA
    sequence, next this sequence will need to be translated into amino acids (use the Codon Usage Table
    provided). Finally determine the consequence, if any, for each mutation. It may help to circle the
    mutation on the DNA sequence.

    Original DNA sequence: TAC ACC TTG GCG GGG ACG ACT
    mRNA sequence: AUG UGG AAC CGC CCC UGC UGA
    Amino acid sequence: Met Trp Asn Arg Pro Cys Stop

    Mutated DNA sequence #1: TAC ACC TTG GAG GGG ACG ACT
    mRNA sequence: AUG UGG AAC CUC CCC UGC UGA
    Amino acid sequence: Met Trp Asn Leu Pro Cys Stop
    Type of mutation: Missense
    Effect on amino acid sequence: Amino acid change (Arg→Leu)

    Mutated DNA sequence #2: TAC ACC TTG GCG GGA ACG ACT
    mRNA sequence: AUG UGG AAC CGC CCU UGC UGA
    Amino acid sequence: Met Trp Asn Arg Pro Cys Stop
    Type of mutation: Silent
    Effect on amino acid sequence: No change

    Mutated DNA sequence #3: TAC ATC TTG GCG GGG ACG ACT
    mRNA sequence: AUG UAG AAC CGC CCC UGC UGA
    Amino acid sequence: Met Stop
    Type of mutation: Nonsense
    Effect on amino acid sequence: Early termination

    Mutated DNA sequence #4: TAC ACC TTC GGC GGG GAC GAC T
    mRNA sequence: AUG UGG AAG CCG CCC CUG CUG A
    Amino acid sequence: Met Trp Lys Pro Pro Leu Leu
    Type of mutation: Insertion (1 bp)
    Effect on amino acid sequence: Frameshift

    2
    Mutated DNA sequence #5: TAC ACC GGC GGG GAC GAC T
    mRNA sequence: AUG UGG CCU CCC CUG CUG A
    Amino acid sequence: Met Trp Pro Pro Leu Leu
    Type of mutation: Deletion (2 bp)
    Effect on amino acid sequence: Frameshift

    Mutated DNA sequence #6: TAC ACC TTG TTG GCG GGG ACG ACT
    mRNA sequence: AUG UGG AAC AAC CGC CCC UGC UGA
    Amino acid sequence: Met Trp Asn Asn Arg Pro Cys Stop
    Type of mutation: Insertion (3 bp)
    Effect on amino acid sequence: Extra amino acid

    So far, all of the mutation types discussed occur within the protein coding sequence of a gene and
    thus have a potential impact on amino acid sequence. Mutations in non-coding regions (promoter,
    splice junctions, UTRs) can also have a functional effect.

    1. For each of the following gene regions, describe the potential effect a mutation may have on
    function:

    a) Promoter:
    Change in the rate of transcription, e.g. reduced binding of RNA polymerase

    b) Splice Junction:
    Incorrect splicing, e.g. exons missing or introns included in mRNA

    c) 5’UTR:
    Insertion of a premature Start codon, reduced mRNA stability, reduced translation efficiency

    d) 3’UTR:
    Reduced mRNA stability, reduced translation efficiency, change in cytoplasmic localisation

    3
    Codon Usage Table

    Second letter
    U C A G
    UUU UCU UAU UGU U
    Phe (F) Tyr (Y) Cys (C)
    UUC UCC UAC UGC C
    U Ser (S)
    UUA UCA UAA UGA Stop A
    Leu (L) Stop
    UUG UCG UAG UGG Trp (W) G
    CUU CCU CAU CGU U
    His (H)
    CUC CCC CAC CGC C
    C Leu (L) Pro (P) Arg (R)

    Third letter
    First Letter

    CUA CCA CAA CGA A


    Gln (Q)
    CUG CCG CAG CGG G
    AUU ACU AAU AGU U
    Asn (N) Ser (S)
    AUC Ile (I) ACC AAC AGC C
    A Thr (T)
    AUA ACA AAA AGA A
    Lys (K) Arg (R)
    AUG Met (M) ACG AAG AGG G
    GUU GCU GAU GGU U
    Asp (D)
    GUC GCC GAC GGC C
    G Val (V) Ala (A) Gly (G)
    GUA GCA GAA GGA A
    Glu (E)
    GUG GCG GAG GGG G

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